| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378163 |
| Start |
41534753:41534753(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2270delA |
| AA Mutation |
p.Asn757ThrfsTer40(p.N757Tfs*40) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000378163 |
| Start |
41745564:41745564(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs387906704
|
| CDS Mutation |
c.316C>T |
| AA Mutation |
p.Arg106Ter(p.R106*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CASK
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378163 |
| Start |
41787182:41787182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.274G>A |
| AA Mutation |
p.Glu92Lys(p.E92K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378163 |
| Start |
41569731:41569731(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1519delA |
| AA Mutation |
p.Met507Ter(p.M507*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|